Varaico: Literature-Extracted Genetic Variants

Gene:MET
Variant:p.L219fs

MET

3,492 papers

RefSeq Summary

This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and be...

Pfam Domains

Semaaa 317–493UCSCSema domain
PSIaa 519–562UCSCPlexin repeat
TIGaa 563–654UCSCIPT/TIG domain
TIGaa 657–739UCSCIPT/TIG domain
TIGaa 742–830UCSCIPT/TIG domain
PK_Tyr_Ser-Thraa 1078–1337UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

MET proto-oncogene, receptor tyrosine kinase

HGNC Alias Symbols

HGFR; RCCP2; DFNB97

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000245.4
p.L219fs
c.655_656fs
Surrounding Variants
1 paper
NM_000245.4
p.L219I
c.655C>A
1 paper
NM_000245.4
p.R218R
c.654G>A
2 papers
NM_000245.4
p.R218S
c.654G>C
2 papers
NM_000245.4
p.R218S
c.654G>T
1 paper
NM_000245.4
p.K220del1
c.658_660delAAG
2 papers
NM_000245.4
p.K220R
c.659A>G
1 paper
NM_000245.4
p.K220K
c.660G>A
1 paper
NM_000245.4
p.R217I
c.650G>T
1 paper
NM_000245.4
p.E221K
c.661G>A
4 papers
NM_000245.4
p.E221G
c.662A>G
1 paper
NM_000245.4
p.R217del1
c.649_650delAGA
1 paper
NM_000245.4
p.E221E
c.663A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."